The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K. [electronic resource]
Producer: 20110128Description: 712-6 p. digitalISSN:- 1468-6244
- Adolescent
- Adult
- Age of Onset
- Axons -- metabolism
- Charcot-Marie-Tooth Disease -- genetics
- Child
- Child, Preschool
- DNA Mutational Analysis
- Electrophysiology
- Gene Deletion
- Genes, Dominant
- Glutathione Transferase -- genetics
- Humans
- Italy
- Molecular Sequence Data
- Mutation
- Mutation, Missense
- Nerve Tissue Proteins -- chemistry
- Pedigree
- Phenotype
- Sequence Analysis, DNA
- Young Adult
No physical items for this record
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.